Canonical Allele Identifier: CA379921363

Gene: ANO5

Linked Data

• gnomAD v4: 11-22255379-T-C
• MyVariant Identifiers: chr11:g.22276925T>C (hg19) ; chr11:g.22255379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255379T>C , CM000673.2:g.22255379T>C	GRCh38
NC_000011.9:g.22276925T>C , CM000673.1:g.22276925T>C	GRCh37
NC_000011.8:g.22233501T>C	NCBI36
NG_015844.1:g.67204T>C , LRG_868:g.67204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.509T>C
ENST00000682266.1:c.739T>C	ENSP00000507766.1:p.Phe247Leu
ENST00000682341.1:c.1147T>C	ENSP00000508251.1:p.Phe383Leu
ENST00000682530.1:c.*1121T>C	ENSP00000506805.1:n.*1121T>C
ENST00000683197.1:c.1147T>C	ENSP00000507641.1:p.Phe383Leu
ENST00000683411.1:c.739T>C	ENSP00000508397.1:p.Phe247Leu
ENST00000683437.1:c.739T>C	ENSP00000508408.1:p.Phe247Leu
ENST00000683613.1:n.2183T>C
ENST00000683834.1:n.1389T>C
ENST00000684663.1:c.1144T>C	ENSP00000508009.1:p.Phe382Leu
ENST00000324559.9:c.1189T>C MANE Select	ENSP00000315371.9:p.Phe397Leu
ENST00000648804.1:n.1524T>C
ENST00000324559.8:c.1189T>C	ENSP00000315371.8:p.Phe397Leu
NM_001142649.1:c.1186T>C	NP_001136121.1:p.Phe396Leu
NM_213599.2:c.1189T>C , LRG_868t1:c.1189T>C	NP_998764.1:p.Phe397Leu
XM_005252820.2:c.1147T>C	XP_005252877.2:p.Phe383Leu
XM_005252821.2:c.1144T>C	XP_005252878.2:p.Phe382Leu
XM_005252822.3:c.1111T>C	XP_005252879.1:p.Phe371Leu
XM_005252823.3:c.1108T>C	XP_005252880.1:p.Phe370Leu
XM_011519949.1:c.1096T>C	XP_011518251.1:p.Phe366Leu
XM_005252820.3:c.1147T>C	XP_005252877.2:p.Phe383Leu
XM_005252821.3:c.1144T>C	XP_005252878.2:p.Phe382Leu
XM_005252822.4:c.1111T>C	XP_005252879.1:p.Phe371Leu
XM_011519949.2:c.1096T>C	XP_011518251.1:p.Phe366Leu
NM_001142649.2:c.1186T>C	NP_001136121.1:p.Phe396Leu
NM_213599.3:c.1189T>C MANE Select	NP_998764.1:p.Phe397Leu